title: A boy with the Rett syndrome?
abstract: A 13-year-old Kuwaiti boy met all necessary and almost all supportive criteria for the Rett syndrome. Electron microscopy of muscle biopsy specimen revealed abnormal mitochondria, a finding that has recently been reported for girls with the Rett syndrome. The results of other laboratory investigations were normal, besides a blood ammonia level of 100 microM/L. The mitochondrial changes observed in girls may be the consequence of an X-borne gene mutation, in which case only the female zygote survives because of the normal allele on the second X-chromosome. However, another genetic possibility discussed is inheritance according to "metabolic interference" of an X-borne allele, which does not rule out the possibility of a male being affected. We assume that the case reported might be a male variant of the Rett syndrome.
authors.affiliation: Department of Paediatrics, Faculty of Medicine, Kuwait University.
authors.forename: O
authors.initials: O
authors.lastname: Eeg-Olofsson
authors.forename: A G
authors.initials: AG
authors.lastname: al-Zuhair
authors.forename: A S
authors.initials: AS
authors.lastname: Teebi
authors.forename: M
authors.initials: M
authors.lastname: Zaki
authors.forename: A S
authors.initials: AS
authors.lastname: Daoud
mesh_terms: D000293:Adolescent; D006801:Humans; D007730:Kuwait; D008297:Male; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009132:Muscles / Q000473:pathology*; D015518:Rett Syndrome / Q000175:diagnosis / Q000473:pathology*